In Friedreich’s ataxia (FA), a subset of patients develops severe thickening of the heart muscle as the heart shifts to using glucose (sugar) as a fast but less effective energy source. This switch is linked to poorer heart function and early signs of damage, a study suggests. These patients…
A combination of insulin, diabetes medications, and supplements that help cells produce energy lowered blood sugar and eased neurological symptoms for a woman with Friedreich’s ataxia and diabetes, according to a case report from India. Researchers said the case was “the first reported instance of concurrent long-term [blood sugar]…
Children with Friedreich’s ataxia are often underweight and short for their age, while adult patients are frequently overweight, so regular nutrition checks are important for maintaining healthy weight, a study from Europe suggested. The study, “Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in…
Adolescents with Friedreich’s ataxia (FA) are now being dosed with nomlabofusp as part of a placebo-controlled Phase 1 clinical study that’s testing Larimar Therapeutics‘ subcutaneous, or under-the-skin, injection therapy. Data from the Phase 1 study, and from other clinical testing of nomlabofusp, are expected by the middle…
Note: This story was updated Dec. 19, 2024, to clarify that the BOLD study does include measures of efficacy. Since its 2023 launch as the first and — to date — only approved treatment for Friedreich’s ataxia in the U.S., Skyclarys (omaveloxolone) has benefited most patients by either…
Male mouse models of Friedreich’s ataxia (FA) in a study showed worse heart function than females, with weaker heart pumping and a larger left ventricle, the heart’s main pumping chamber. The differences are relevant as these mice are widely used for preclinical testing of new treatments for the disease. Researchers…
A recent mouse model of Friedreich’s ataxia (FA), called YG8-800, better mimics the disease’s symptoms and mechanisms in people than earlier models, making it a useful tool for testing treatments aiming to slow or stop disease progression, a study reports. Specially, YG8-800 mice carry a mutation that causes repeats…
A brain pathway that connects the cerebellum to the motor cortex, helping coordinate and control movement by sending important signals between these two areas, is damaged in Friedreich’s ataxia (FA). In an imaging study, researchers observed that the dentato-thalamo-cortical tract (DTT) is most damaged near the cerebellum at the…
Diazoxide, a medication used to treat high blood pressure, protected cells — isolated from a person with Friedreich’s ataxia (FA) — against cellular damage caused by oxidative stress, suggesting it could be repurposed to treat the disease. Because diazoxide can’t make it to the brain, which is affected by…
The use of high-resolution ultrasound in people with Friedreich’s ataxia revealed nerve changes in the armpits and arms that correlated with disease severity in a small study by researchers in Italy. These results suggest that such ultrasounds of the nerves running through the axilla region — the armpits —…
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